Canonical Allele Identifier: CA512345355
Gene: KCNE2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.35742972G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370673G>A , CM000683.2:g.34370673G>A GRCh38
NC_000021.8:g.35742972G>A , CM000683.1:g.35742972G>A GRCh37
NC_000021.7:g.34664842G>A NCBI36
NG_008804.1:g.11650G>A , LRG_291:g.11650G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.195G>A MANE Select ENSP00000290310.2:p.Val65=
ENST00000290310.3:c.195G>A ENSP00000290310.2:p.Val65=
NM_172201.1:c.195G>A , LRG_291t1:c.195G>A NP_751951.1:p.Val65=
NM_172201.2:c.195G>A MANE Select NP_751951.1:p.Val65=